Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Created: 11 Dec 2020, 2:07 p.m. | Last Modified: 11 Dec 2020, 2:07 p.m.
Panel Version: 2.21
HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses.
Needs to be added to skin panels, in addition to the already described IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016 phenotype.
Created: 2 Nov 2020, 9:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mucoepithelial dysplasia, hereditary, MIM#158310
Gene: srebf1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SREBF1.
Phenotypes for gene: SREBF1 were changed from Mucoepithelial dysplasia, hereditary, MIM#158310 to Mucoepithelial dysplasia, hereditary, OMIM:158310, MONDO:0008017
gene: SREBF1 was added gene: SREBF1 was added to Cataracts. Sources: Literature Mode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SREBF1 were set to 32497488; 31790666; 32902915 Phenotypes for gene: SREBF1 were set to Mucoepithelial dysplasia, hereditary, MIM#158310 Review for gene: SREBF1 was set to GREEN